COQ8A : coenzyme Q8A
Description
The COQ8A (coenzyme Q8A) is a protein-coding gene located on chromosome 1.
The COQ8A gene provides instructions for making a protein that is involved in the production of coenzyme Q10, a vital molecule with multiple functions in cells. Coenzyme Q10 is essential for oxidative phosphorylation within mitochondria, the process converting food energy into usable cellular energy. It also participates in the production of pyrimidines, which are building blocks for DNA and RNA, and energy sources ATP and GTP. In cell membranes, coenzyme Q10 acts as an antioxidant, protecting cells from free radical damage, byproducts of energy production.
COQ8A is an atypical kinase involved in the biosynthesis of coenzyme Q, also known as ubiquinone, which is essential for cellular respiration. COQ8A's substrate specificity is unclear, as it lacks protein kinase activity. It likely acts as a small molecule kinase, potentially a lipid kinase, phosphorylating a prenyl lipid in the ubiquinone biosynthesis pathway. This is supported by its ability to bind coenzyme Q lipid intermediates. Interestingly, COQ8A shows a preference for binding ADP over ATP.
COQ8A is also known as ADCK3, ARCA2, CABC1, COQ10D4, COQ8, SCAR9.
Associated Diseases
- Autosomal recessive ataxia due to ubiquinone deficiency
- Coenzyme Q10 deficiency, primary, 4
- Primary coenzyme Q10 deficiency
